view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXDNL_chr8_51314577_51814445 | 51534815 | C | TGGCCAGC others(42): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18966.hp1 |
a0003a0005 | a0003c0003a0005c0028 | a0003c0003t0001a0005c0028t0001 | a0003c0003t0001g0081 a0005c0028t0001g0083 |
2 | 122 | 0.0164 | 49 | c.380 others(68): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1635000 | T | TGGGACAG others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0006a0001c0014 | a0001c0006t0013a0001c0014t0013 | a0001c0006t0013g0310 a0001c0014t0013g0145 a0001c0014t0013g0248 |
3 | 322 | 0.0093 | 49 | c.432 others(66): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 22/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1710746 | A | ACTCTCCA others(42): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 | 1 | 322 | 0.0031 | 49 | c.201 others(68): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1710855 | A | ACTCTCCA others(42): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0006 | a0006c0025 | a0006c0025t0020 | a0006c0025t0020g0172 | 1 | 322 | 0.0031 | 49 | c.201 others(68): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1710943 | A | ACACCCGC others(42): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02109.hp1 HG02135.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0070 a0001c0001t0001g0162 a0001c0001t0001g0214 others(7): Show |
10 | 322 | 0.0311 | 49 | c.201 others(68): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1719898 | C | CAGAGAGA others(42): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0182 others(53): Show |
56 | 322 | 0.1739 | 49 | c.200 others(68): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132693994 | C | CCAGTTAG others(42): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0008 | a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 others(4): Show |
9 | 350 | 0.0257 | 49 | c.237 others(66): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PYM1_chr12_55896413_55932894 | 55905889 | T | TTATATAT others(42): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 344 | 0.0029 | 49 | c.38- others(64): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(42): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02647.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0214 a0003c0004t0002g0097 |
2 | 442 | 0.0045 | 49 | c.120 others(66): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65105511 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 340 | 0.0029 | 49 | c.24- others(62): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530435 | G | GCCCCGGG others(42): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 426 | 0.0024 | 49 | c.173 others(66): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(42): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 314 | 0.0032 | 49 | c.53+ others(62): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174349403 | G | GGGGGCTG others(42): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0042 |
2 | 272 | 0.0074 | 49 | c.146 others(70): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03710.hp2 HG04199.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0035a0003c0004t0001 | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0053 others(3): Show |
6 | 272 | 0.0221 | 49 | c.234 others(70): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4886300 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0027 | a0027c0052 | a0027c0052t0039 | a0027c0052t0039g0014 | 1 | 292 | 0.0034 | 49 | c.-27 others(60): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2585 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(42): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0025 | a0003c0025t0030 | a0003c0025t0030g0015 | 1 | 292 | 0.0034 | 49 | c.-27 others(60): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(42): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 342 | 0.0029 | 49 | c.-57 others(58): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAPGEF4_chr2_172730845_173057893 | 173056623 | T | TGGGGTGG others(42): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 178 | 0.0056 | 49 | c.*48 others(60): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 3731 | chr2 | TogoVar | |||||||
RASA1_chr5_87262883_87396916 | 87338535 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 282 | 0.0036 | 49 | c.101 others(66): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 5/24 | chr5 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113995803 | T | TGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | 49 | c.214 others(66): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 21/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114021012 | A | AGCTCAGG others(42): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 a0001c0001t0006g0012 |
2 | 67 | 0.0299 | 49 | c.785 others(64): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 9/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044097 | C | CCCCCGCC others(42): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | 49 | c.278 others(66): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114070811 | C | CTTACACG others(42): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(30): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(30): Show |
33 | 67 | 0.4925 | 49 | c.173 others(66): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114070969 | G | GCAGGGCT others(42): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | 49 | c.173 others(66): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099750 | C | CCCCACAG others(42): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0006 | 1 | 67 | 0.0149 | 49 | c.56- others(66): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099856 | G | GCCCCCCA others(42): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 67 | 0.0149 | 49 | c.56- others(66): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBBP8_chr18_22928328_23031486 | 23022602 | A | AAAAATAA others(42): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0302 | 1 | 330 | 0.0030 | 49 | c.259 others(66): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7022030 | T | TCCCCCTC others(42): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0008g0034 a0001c0001t0009g0036 a0001c0001t0011g0035 others(2): Show |
5 | 68 | 0.0735 | 49 | c.-15 others(68): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79611130 | T | TCTCTCTC others(42): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0003g0035 |
2 | 154 | 0.0130 | 49 | c.-62 others(58): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 80 | chr17 | TogoVar | |||||||
RBM5_chr3_50083919_50124021 | 50084908 | G | GCTGGACG others(42): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(144): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(113): Show |
147 | 284 | 0.5176 | 49 | c.-41 others(60): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 4010 | chr3 | TogoVar | |||||||
RBM5_chr3_50083919_50124021 | 50084911 | G | GGACGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02895.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(9): Show |
12 | 284 | 0.0423 | 49 | c.-41 others(60): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 4007 | chr3 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122852549 | C | CGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 a0001c0002t0002g0123 |
2 | 320 | 0.0063 | 49 | c.311 others(68): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 18/20 | chr9 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0273 | 1 | 390 | 0.0026 | 49 | c.286 others(66): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102676823 | A | ACCTCCCG others(42): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0043a0001c0001t0050 | a0001c0001t0009g0002 a0001c0001t0009g0143 a0001c0001t0009g0144 others(4): Show |
7 | 292 | 0.0240 | 49 | c.362 others(66): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102676846 | C | CAGGTGGG others(42): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02965.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0039 | a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0017g0156 others(2): Show |
5 | 292 | 0.0171 | 49 | c.362 others(66): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
RELCH_chr18_62182255_62315249 | 62185665 | C | CCTGATAG others(42): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0125 a0001c0001t0001g0133 others(178): Show |
183 | 340 | 0.5382 | 49 | c.-18 others(60): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 1589 | chr18 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31470628 | C | CGGACAGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02055.hp2 HG02155.hp2 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001a0002c0003t0002 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0003t0001g0006 others(2): Show |
6 | 344 | 0.0174 | 49 | c.-49 others(60): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4659 | chr20 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31470628 | C | CGGACAGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 344 | 0.0029 | 49 | c.-49 others(60): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4659 | chr20 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31470649 | C | CGGGGGGC others(42): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG02109.hp1 others(4): Show |
a0002a0012 | a0002c0002a0012c0013 | a0002c0002t0001a0002c0002t0005a0012c0013t0007 | a0002c0002t0001g0047 a0002c0002t0001g0066 a0002c0002t0001g0072 others(3): Show |
7 | 344 | 0.0204 | 49 | c.-49 others(60): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4638 | chr20 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31470649 | C | CGGGGGGC others(42): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(39): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(29): Show |
42 | 344 | 0.1221 | 49 | c.-49 others(60): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4638 | chr20 | TogoVar | |||||||
REPIN1_chr7_150363822_150379039 | 150365858 | A | AGCCTCAA others(42): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 49 | c.-31 others(60): Show |
REPIN1 | ENSG00000214022.12 | transcript | ENST00000489432.7 | protein_coding | 2963 | chr7 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 17050197 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 166 | 0.0060 | 49 | c.908 others(66): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8501242 | T | TCCGGGAG others(42): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0119 | 1 | 204 | 0.0049 | 49 | c.880 others(66): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8501386 | G | GTCAGCCC others(42): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 204 | 0.0049 | 49 | c.880 others(66): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8501400 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(34): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(96): Show |
99 | 204 | 0.4853 | 49 | c.880 others(66): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8501886 | G | GGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(40): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0033 others(133): Show |
136 | 204 | 0.6667 | 49 | c.880 others(66): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39329127 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135 | 1 | 276 | 0.0036 | 49 | c.332 others(66): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296124 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0031 | 1 | 388 | 0.0026 | 49 | c.207 others(64): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296157 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0291 | 1 | 388 | 0.0026 | 49 | c.207 others(64): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3366693 | C | CTTTCCTT others(42): Show |
intron_variant | MODIFIER | HG01884.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0072 | a0001c0001t0026g0196 a0001c0001t0072g0193 |
2 | 196 | 0.0102 | 49 | c.118 others(68): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar |